BCLAF1 R45M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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BCLAF1 R45M

(BCLAF1 Arg45Met)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:13am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr6:136599885: 2.2% (238/10756) in EVS
  • A @ chr6:136641577: 4.0% (5/124) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (238/10756)

Publications
 

Genomes
 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr6:136599885

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr6:136599885

 

Added in this revision:

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr6:136599885

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:136641578

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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